Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Zfp128'

507004

Institutional Source

Beutler Lab

Gene Symbol

Zfp128

Ensembl Gene

ENSMUSG00000060397

Gene Name

zinc finger protein 128

Synonyms

mZnf8, 9630016P15Rik

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12615105-12627349 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 12624897 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 422 (Y422H)

Ref Sequence

ENSEMBL: ENSMUSP00000115378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000144578]

AlphaFold

Q8BGV5

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000081891

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144578
AA Change: Y422H

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115378
Gene: ENSMUSG00000060397
AA Change: Y422H

Domain	Start	End	E-Value	Type
KRAB	25	85	2.51e-38	SMART
ZnF_C2H2	254	276	8.47e-4	SMART
ZnF_C2H2	282	304	5.21e-4	SMART
ZnF_C2H2	310	332	4.17e-3	SMART
ZnF_C2H2	338	360	3.89e-3	SMART
ZnF_C2H2	366	388	1.47e-3	SMART
ZnF_C2H2	394	416	8.47e-4	SMART
ZnF_C2H2	464	486	3.39e-3	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c12	T	C	13: 4,320,206 (GRCm39)	T295A	probably benign	Het
Aldh2	C	A	5: 121,706,997 (GRCm39)	V217L	probably damaging	Het
Arap3	G	A	18: 38,123,844 (GRCm39)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,916,977 (GRCm39)	L75R	probably damaging	Het
Blm	C	A	7: 80,149,688 (GRCm39)	K640N	probably benign	Het
Brap	A	T	5: 121,823,328 (GRCm39)	T487S	probably benign	Het
Ccser2	G	A	14: 36,601,632 (GRCm39)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,361,503 (GRCm39)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,738,647 (GRCm39)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 133,951,514 (GRCm39)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm39)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,773 (GRCm39)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,841,952 (GRCm39)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,350,442 (GRCm39)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,625,688 (GRCm39)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,710,524 (GRCm39)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,549,911 (GRCm39)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,426,683 (GRCm39)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,287,864 (GRCm39)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,759,663 (GRCm39)	R1187S	probably damaging	Het
H6pd	T	C	4: 150,080,414 (GRCm39)	I136V	probably benign	Het
Hyal2	A	G	9: 107,447,914 (GRCm39)	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,085,439 (GRCm39)	P2410S	probably damaging	Het
Larp1	A	G	11: 57,933,089 (GRCm39)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,244,927 (GRCm39)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,641,340 (GRCm39)	F508S	probably damaging	Het
Marchf4	T	C	1: 72,491,647 (GRCm39)	Y208C	probably damaging	Het
Mtarc2	T	C	1: 184,566,140 (GRCm39)	R85G	probably damaging	Het
Nr1h2	A	T	7: 44,201,476 (GRCm39)	C45*	probably null	Het
Or10ag2	T	A	2: 87,249,350 (GRCm39)	S319R	probably benign	Het
Or2n1e	A	G	17: 38,586,039 (GRCm39)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,996,629 (GRCm39)		probably null	Het
Prpf40a	A	T	2: 53,046,639 (GRCm39)	S324T	probably benign	Het
Psmb7	T	C	2: 38,530,199 (GRCm39)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,336,767 (GRCm39)	T140A	probably benign	Het
Pygm	T	C	19: 6,448,169 (GRCm39)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,676,418 (GRCm39)	R122H	probably benign	Het
Relch	T	G	1: 105,659,007 (GRCm39)		probably null	Het
Rrp8	T	C	7: 105,385,596 (GRCm39)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,371,485 (GRCm39)	S37P	probably damaging	Het
Slc12a3	A	G	8: 95,085,099 (GRCm39)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,051,814 (GRCm39)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,624,953 (GRCm39)	Q281R	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,126 (GRCm39)	V147I	probably benign	Het
Tefm	A	G	11: 80,028,814 (GRCm39)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,738,547 (GRCm39)	V145E	probably damaging	Het
Tmem231	T	A	8: 112,641,897 (GRCm39)	E219V	probably null	Het
Tmx3	T	A	18: 90,555,334 (GRCm39)		probably null	Het
Tns3	G	A	11: 8,442,987 (GRCm39)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 53,089,220 (GRCm39)	S76R	probably benign	Het
Trp63	A	G	16: 25,681,210 (GRCm39)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,696,984 (GRCm39)		probably benign	Het
Unc13d	A	G	11: 115,959,064 (GRCm39)	V701A	probably damaging	Het
Usp36	A	G	11: 118,159,411 (GRCm39)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,141,176 (GRCm39)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,899,007 (GRCm39)	C450S	probably benign	Het
Zkscan7	C	T	9: 122,724,299 (GRCm39)	Q423*	probably null	Het

Other mutations in Zfp128

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01140:Zfp128	APN	7	12,624,949 (GRCm39)	missense	probably benign	0.00
IGL01293:Zfp128	APN	7	12,625,351 (GRCm39)	makesense	probably null
IGL02067:Zfp128	APN	7	12,618,977 (GRCm39)	missense	possibly damaging	0.86
IGL02146:Zfp128	APN	7	12,623,959 (GRCm39)	missense	possibly damaging	0.72
IGL02654:Zfp128	APN	7	12,618,606 (GRCm39)	missense	possibly damaging	0.95
IGL03066:Zfp128	APN	7	12,624,044 (GRCm39)	missense	probably benign	0.00
IGL03076:Zfp128	APN	7	12,618,636 (GRCm39)	missense	possibly damaging	0.95
IGL03113:Zfp128	APN	7	12,624,314 (GRCm39)	missense	probably benign	0.00
IGL03237:Zfp128	APN	7	12,624,953 (GRCm39)	missense	probably benign	0.28
prayer	UTSW	7	12,624,563 (GRCm39)	nonsense	probably null
R0783:Zfp128	UTSW	7	12,624,199 (GRCm39)	missense	probably damaging	1.00
R1686:Zfp128	UTSW	7	12,624,563 (GRCm39)	nonsense	probably null
R1806:Zfp128	UTSW	7	12,624,949 (GRCm39)	missense	probably benign	0.00
R2021:Zfp128	UTSW	7	12,623,956 (GRCm39)	missense	possibly damaging	0.96
R3792:Zfp128	UTSW	7	12,618,659 (GRCm39)	missense	probably damaging	0.98
R4105:Zfp128	UTSW	7	12,618,667 (GRCm39)	missense	probably damaging	0.99
R4167:Zfp128	UTSW	7	12,624,289 (GRCm39)	missense	probably benign	0.28
R4168:Zfp128	UTSW	7	12,624,289 (GRCm39)	missense	probably benign	0.28
R5743:Zfp128	UTSW	7	12,618,654 (GRCm39)	missense	probably damaging	1.00
R6799:Zfp128	UTSW	7	12,624,826 (GRCm39)	missense	possibly damaging	0.93
R7102:Zfp128	UTSW	7	12,624,399 (GRCm39)	missense	probably damaging	1.00
R7313:Zfp128	UTSW	7	12,624,461 (GRCm39)	missense	possibly damaging	0.94
R7428:Zfp128	UTSW	7	12,624,289 (GRCm39)	missense	probably benign	0.28
R7504:Zfp128	UTSW	7	12,624,405 (GRCm39)	missense	probably damaging	0.99
R7539:Zfp128	UTSW	7	12,624,479 (GRCm39)	nonsense	probably null
R7636:Zfp128	UTSW	7	12,624,039 (GRCm39)	missense	probably benign
R7755:Zfp128	UTSW	7	12,624,240 (GRCm39)	nonsense	probably null
R7820:Zfp128	UTSW	7	12,624,949 (GRCm39)	missense	probably benign	0.00
R8269:Zfp128	UTSW	7	12,624,663 (GRCm39)	missense	probably damaging	1.00
R8932:Zfp128	UTSW	7	12,625,113 (GRCm39)	missense	possibly damaging	0.91
R9361:Zfp128	UTSW	7	12,624,364 (GRCm39)	missense	probably damaging	0.99
R9381:Zfp128	UTSW	7	12,624,897 (GRCm39)	missense	possibly damaging	0.80

Predicted Primers

PCR Primer
(F):5'- GGGAGAAGCCTTATACCTGC -3'
(R):5'- CGTCTACACGGCTGTTCTTG -3'

Sequencing Primer
(F):5'- AGAAGCCTTATACCTGCAGTGTTTG -3'
(R):5'- CTGATGTCGGATGAGGTGAGAACTC -3'

Posted On

2018-03-15